5K, family day to benefit, raise awareness for Prader-Willi syndrome

Every night, David and Gwyn Spearman of Roebuck give their 10-month-old daughter, Ellie, a shot of growth hormone to help her muscles develop so she can do basic things such as eat, speak and sit up.

By Felicia Kitzmillerfelicia.kitzmiller@shj.com

Every night before bed, David and Gwyn Spearman of Roebuck give their 10-month-old daughter, Ellie, a shot of growth hormone to help her muscles develop so she can do basic things such as eat, speak and sit up.Ellie Spearman has Prader-Willi Syndrome, a rare genetic defect of the 15th chromosome that causes incomplete muscle development. When she was born, Ellie didn't have the muscles to suckle properly so she couldn't feed. She still struggles with sleep apnea caused by underdeveloped muscles, and her motor skills lag behind other infants.“People don't understand that babies without muscle tone don't move, and babies that don't move don't develop,” David Spearman said.Later in life, Prader-Willi Syndrome will block Ellie's ability to feel full, and lead to the possibility of massive overeating. To compound the problem, it will cause her body to burn calories at a slower rate. Obesity and the health problems associated with it are among the most serious symptoms of Prader-Willi Syndrome.To enhance understanding and raise money for research of this as yet incurable disease, the Spearmans will host a 5k and family day at 9:30 a.m. to 1 p.m. Saturday in the Susan Jacobs Arboretum at University of South Carolina Upstate. Gwyn Spearman works at the college as a student services coordinator.Registration is $20 or $40 with an event T-shirt and $10 for children's activities. There will be facts about Prader-Willi Syndrome posted along the run/walk route, and all the proceeds of the event will be donated to One SMALL Step for Prader-Willi Syndrome for research. About 100 people have preregistered for the event, including seven families from South Carolina, Georgia and North Carolina who have been affected by the disease.The Spearman said they feel lucky and grateful to have gotten Ellie's diagnosis early. The infant is already in speech, physical and occupational therapy, and she gets medical treatment through the injections. The couple said they have seen tremendous progress in a short time.“I never thought I'd be giving my daughter a shot every night,” David Spearman said. “You never expect that you would end up building your life around therapy and doctor appointments, but it's worth it.”It has been a difficult journey; Gwyn Spearman said she remembers being shocked when the first delivery of oxygen tanks arrived at the door, but they aren't ready to give up.They are planning new family traditions for holidays and birthdays that won't include the over-eating and sweets associated with celebrations. They have accepted that Ellie might not every be able to live independently and she might have learning disabilities. Today, however, Ellie is a gregarious baby who loves to smile and be the center of attention.

“We try not to look too far ahead with this,” Gwyn Spearman said. “To me, Ellie is going to make her own journey. At the end of the day, the sky's the limit. There's so much more they can do. I just feel in my heart there's a cure.”To register for the 5K, visit http://onesmallstep.fpwr.org/dw/users/gspearman/spartanburg2012 or email Gwyn Spearman at gwynspearman@gmail.com.